eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | intellectual disability |
| Comorbidity | C0014547|focal epilepsy |
| Sentences | 2 |
| PubMedID- 24272827 | Grin2b mutations in west syndrome and intellectual disability with focal epilepsy. |
| PubMedID- 25751627 | Patient #3 (intellectual disability with neonatal-onset focal epilepsy and cerebellar hypoplasia) carried the variant c.440g>a, p.arg147lys (r147k), of unknown inheritance. |
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